HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48349011T>C , CM000675.2:g.48349011T>C | GRCh38 |
NC_000013.10:g.48923147T>C , CM000675.1:g.48923147T>C | GRCh37 |
NC_000013.9:g.47821148T>C | NCBI36 |
NG_009009.1:g.50265T>C , LRG_517:g.50265T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.595T>C MANE Select | ENSP00000267163.4:p.Leu199= | |
ENST00000650461.1:c.595T>C | ENSP00000497193.1:p.Leu199= | |
ENST00000267163.4:c.595T>C | ENSP00000267163.4:p.Leu199= | |
ENST00000467505.5:c.138-11006T>C | ENSP00000434702.1:n.138-11006T>C | |
ENST00000525036.1:n.757T>C | ||
NM_000321.2:c.595T>C , LRG_517t1:c.595T>C | NP_000312.2:p.Leu199= | |
XM_011535171.1:c.334T>C | XP_011533473.1:p.Leu112= | |
XM_011535171.2:c.334T>C | XP_011533473.1:p.Leu112= | |
NM_000321.3:c.595T>C MANE Select | NP_000312.2:p.Leu199= |